Incidental Mutation 'R6339:Pla2g6'
ID 513853
Institutional Source Beutler Lab
Gene Symbol Pla2g6
Ensembl Gene ENSMUSG00000042632
Gene Name phospholipase A2, group VI
Synonyms iPLA2, iPLA2beta
MMRRC Submission 044493-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6339 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79170428-79212590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79193016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 217 (N217I)
Ref Sequence ENSEMBL: ENSMUSP00000134672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047816] [ENSMUST00000166977] [ENSMUST00000172403] [ENSMUST00000173109] [ENSMUST00000173163] [ENSMUST00000174021] [ENSMUST00000173632]
AlphaFold P97819
Predicted Effect probably damaging
Transcript: ENSMUST00000047816
AA Change: N217I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: N217I

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Pfam:Patatin 427 611 6.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166977
AA Change: N217I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: N217I

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Pfam:Patatin 427 611 6.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172403
AA Change: N217I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: N217I

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Pfam:Patatin 427 611 6.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173109
SMART Domains Protein: ENSMUSP00000133554
Gene: ENSMUSG00000042632

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173163
AA Change: N217I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: N217I

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Pfam:Patatin 427 611 6.7e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173412
Predicted Effect probably damaging
Transcript: ENSMUST00000174021
AA Change: N217I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: N217I

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
ANK 185 215 4.6e0 SMART
ANK 219 248 3.23e-4 SMART
ANK 286 312 1.52e0 SMART
ANK 316 345 6.46e-4 SMART
ANK 349 378 2.02e-5 SMART
Blast:ANK 382 411 2e-8 BLAST
Pfam:Patatin 482 666 2.9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173601
Predicted Effect probably benign
Transcript: ENSMUST00000173632
SMART Domains Protein: ENSMUSP00000133998
Gene: ENSMUSG00000042632

DomainStartEndE-ValueType
low complexity region 96 109 N/A INTRINSIC
ANK 151 181 2.97e-3 SMART
Blast:ANK 185 204 7e-6 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.1%
Validation Efficiency 97% (69/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display impaired male fertility and asthenozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933424G06Rik A T 1: 36,749,542 (GRCm39) probably benign Het
Adgrg6 G T 10: 14,310,091 (GRCm39) S743R probably damaging Het
Ak8 A G 2: 28,624,460 (GRCm39) probably null Het
Alpk2 A G 18: 65,482,877 (GRCm39) M377T probably benign Het
Ap1g1 G A 8: 110,571,000 (GRCm39) V425I possibly damaging Het
Apob A T 12: 8,066,188 (GRCm39) R4353W probably damaging Het
Arhgef38 T C 3: 132,839,423 (GRCm39) K540R probably benign Het
B3galt2 A T 1: 143,522,640 (GRCm39) T259S possibly damaging Het
Btbd8 G A 5: 107,651,583 (GRCm39) V159I probably benign Het
C2cd2l T C 9: 44,224,788 (GRCm39) probably benign Het
Carmil3 T C 14: 55,737,306 (GRCm39) V763A possibly damaging Het
Ccdc171 A T 4: 83,661,234 (GRCm39) T1115S probably damaging Het
Chst2 C T 9: 95,287,803 (GRCm39) G181D probably damaging Het
Col7a1 C T 9: 108,785,701 (GRCm39) T390M unknown Het
Cpt1a A C 19: 3,412,152 (GRCm39) D208A probably benign Het
Crocc2 A G 1: 93,141,754 (GRCm39) E1183G probably benign Het
Defa39 G A 8: 22,193,485 (GRCm39) S45F possibly damaging Het
Dlg5 T A 14: 24,208,128 (GRCm39) H1003L probably damaging Het
Dok2 A T 14: 71,013,158 (GRCm39) I109L probably benign Het
Dpy19l4 A T 4: 11,285,111 (GRCm39) I465K probably damaging Het
Dync1h1 A T 12: 110,612,639 (GRCm39) D2838V probably damaging Het
Frem3 A G 8: 81,339,644 (GRCm39) R646G possibly damaging Het
Gcfc2 T A 6: 81,923,477 (GRCm39) F514I probably damaging Het
Gm8104 T C 14: 42,958,942 (GRCm39) M44T probably benign Het
Golph3l T A 3: 95,524,750 (GRCm39) W334R probably damaging Het
Gpr179 A T 11: 97,235,002 (GRCm39) F443I probably damaging Het
Ift172 A G 5: 31,413,927 (GRCm39) V1467A probably benign Het
Ift172 A T 5: 31,444,289 (GRCm39) D44E probably damaging Het
Il1rl1 C T 1: 40,501,016 (GRCm39) A464V possibly damaging Het
Irx5 A G 8: 93,086,481 (GRCm39) E188G probably damaging Het
Jak1 A G 4: 101,019,123 (GRCm39) V710A probably damaging Het
Kcng4 A T 8: 120,359,693 (GRCm39) F228I probably damaging Het
Lifr A G 15: 7,196,530 (GRCm39) N238S probably benign Het
Ltbp3 C A 19: 5,797,505 (GRCm39) H414Q probably damaging Het
Mcpt8 A G 14: 56,319,794 (GRCm39) C219R probably benign Het
Mepce A T 5: 137,783,950 (GRCm39) N125K possibly damaging Het
Mfap3 T C 11: 57,420,598 (GRCm39) F193S probably damaging Het
Miox T A 15: 89,219,702 (GRCm39) Y63* probably null Het
Msl2 A T 9: 100,978,949 (GRCm39) H441L probably benign Het
Nemp2 T A 1: 52,680,069 (GRCm39) S98T possibly damaging Het
Neto2 G T 8: 86,367,187 (GRCm39) A547E probably benign Het
Nol12 T C 15: 78,825,033 (GRCm39) probably benign Het
Npr3 T C 15: 11,845,361 (GRCm39) I504V probably damaging Het
Or4c106 A G 2: 88,683,215 (GRCm39) D307G probably null Het
Pcdhb3 T C 18: 37,433,998 (GRCm39) probably benign Het
Pear1 C A 3: 87,659,827 (GRCm39) G720W probably damaging Het
Pibf1 T G 14: 99,344,834 (GRCm39) D151E probably damaging Het
Plcd1 G A 9: 118,904,059 (GRCm39) R292C probably damaging Het
Plcl1 C T 1: 55,735,474 (GRCm39) L272F probably damaging Het
Ppp4r4 A T 12: 103,571,228 (GRCm39) K656* probably null Het
Prr22 G A 17: 57,078,490 (GRCm39) M214I probably benign Het
Ror1 G T 4: 100,269,128 (GRCm39) R322L possibly damaging Het
Sh3tc2 G A 18: 62,108,642 (GRCm39) W244* probably null Het
Slamf6 A G 1: 171,775,615 (GRCm39) N320S probably null Het
Slc1a6 A C 10: 78,635,919 (GRCm39) D328A possibly damaging Het
Sorl1 G T 9: 41,881,038 (GRCm39) T2161K probably benign Het
Spata31e2 T A 1: 26,721,586 (GRCm39) D1198V probably benign Het
Sstr2 T C 11: 113,515,375 (GRCm39) F98S probably damaging Het
Stk33 A T 7: 108,920,672 (GRCm39) D348E probably benign Het
Sulf1 T A 1: 12,908,664 (GRCm39) L559Q probably damaging Het
Syne2 A G 12: 76,035,927 (GRCm39) D3738G probably benign Het
Taok3 A T 5: 117,366,095 (GRCm39) Q382L probably benign Het
Tet2 T A 3: 133,192,178 (GRCm39) H752L possibly damaging Het
Tia1 A C 6: 86,403,638 (GRCm39) K285T probably damaging Het
Tle3 G T 9: 61,309,206 (GRCm39) probably null Het
Top1mt T C 15: 75,537,505 (GRCm39) T414A possibly damaging Het
Ubc A T 5: 125,464,406 (GRCm39) I307N probably damaging Het
Vmn2r96 A T 17: 18,804,124 (GRCm39) D266V possibly damaging Het
Wbp2nl G T 15: 82,183,246 (GRCm39) W13C possibly damaging Het
Zfp456 T A 13: 67,510,483 (GRCm39) K102* probably null Het
Zkscan1 T C 5: 138,091,567 (GRCm39) V100A probably damaging Het
Other mutations in Pla2g6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Pla2g6 APN 15 79,173,441 (GRCm39) missense probably damaging 0.96
IGL00906:Pla2g6 APN 15 79,171,947 (GRCm39) missense probably damaging 1.00
IGL01432:Pla2g6 APN 15 79,202,168 (GRCm39) start codon destroyed probably null 1.00
IGL01640:Pla2g6 APN 15 79,188,513 (GRCm39) missense probably benign
IGL01715:Pla2g6 APN 15 79,202,057 (GRCm39) missense probably benign 0.00
IGL01943:Pla2g6 APN 15 79,197,316 (GRCm39) missense probably null 0.00
IGL02551:Pla2g6 APN 15 79,183,294 (GRCm39) missense possibly damaging 0.95
IGL03120:Pla2g6 APN 15 79,171,060 (GRCm39) missense probably damaging 1.00
IGL03193:Pla2g6 APN 15 79,201,985 (GRCm39) missense probably damaging 0.98
IGL03194:Pla2g6 APN 15 79,201,985 (GRCm39) missense probably damaging 0.98
IGL03205:Pla2g6 APN 15 79,201,985 (GRCm39) missense probably damaging 0.98
IGL03289:Pla2g6 APN 15 79,201,985 (GRCm39) missense probably damaging 0.98
R0288:Pla2g6 UTSW 15 79,171,106 (GRCm39) splice site probably benign
R0631:Pla2g6 UTSW 15 79,190,596 (GRCm39) missense probably damaging 1.00
R1216:Pla2g6 UTSW 15 79,190,635 (GRCm39) missense probably benign 0.18
R1617:Pla2g6 UTSW 15 79,173,341 (GRCm39) missense probably benign 0.03
R1785:Pla2g6 UTSW 15 79,190,545 (GRCm39) missense probably benign 0.02
R2025:Pla2g6 UTSW 15 79,170,964 (GRCm39) missense probably damaging 1.00
R2079:Pla2g6 UTSW 15 79,197,194 (GRCm39) missense probably damaging 1.00
R3952:Pla2g6 UTSW 15 79,197,296 (GRCm39) missense probably damaging 1.00
R4774:Pla2g6 UTSW 15 79,171,818 (GRCm39) missense probably damaging 1.00
R4826:Pla2g6 UTSW 15 79,192,879 (GRCm39) missense possibly damaging 0.96
R5093:Pla2g6 UTSW 15 79,171,328 (GRCm39) missense probably benign 0.12
R5327:Pla2g6 UTSW 15 79,186,837 (GRCm39) missense probably benign 0.03
R5390:Pla2g6 UTSW 15 79,173,893 (GRCm39) missense possibly damaging 0.72
R5419:Pla2g6 UTSW 15 79,183,342 (GRCm39) missense possibly damaging 0.82
R5432:Pla2g6 UTSW 15 79,186,817 (GRCm39) critical splice donor site probably null
R5633:Pla2g6 UTSW 15 79,183,342 (GRCm39) missense possibly damaging 0.82
R5829:Pla2g6 UTSW 15 79,171,893 (GRCm39) missense possibly damaging 0.73
R5930:Pla2g6 UTSW 15 79,187,728 (GRCm39) intron probably benign
R6228:Pla2g6 UTSW 15 79,189,924 (GRCm39) missense probably benign 0.00
R6241:Pla2g6 UTSW 15 79,188,592 (GRCm39) missense probably benign 0.02
R6485:Pla2g6 UTSW 15 79,191,572 (GRCm39) missense probably benign 0.00
R6754:Pla2g6 UTSW 15 79,190,510 (GRCm39) missense probably benign 0.01
R7419:Pla2g6 UTSW 15 79,189,898 (GRCm39) splice site probably null
R7425:Pla2g6 UTSW 15 79,192,933 (GRCm39) missense probably damaging 1.00
R7710:Pla2g6 UTSW 15 79,171,358 (GRCm39) missense probably damaging 0.98
R7738:Pla2g6 UTSW 15 79,181,633 (GRCm39) nonsense probably null
R7768:Pla2g6 UTSW 15 79,181,514 (GRCm39) missense probably damaging 1.00
R7796:Pla2g6 UTSW 15 79,202,025 (GRCm39) missense probably benign 0.32
R8184:Pla2g6 UTSW 15 79,171,322 (GRCm39) missense probably benign 0.02
R8359:Pla2g6 UTSW 15 79,171,370 (GRCm39) missense probably damaging 0.98
R9105:Pla2g6 UTSW 15 79,183,397 (GRCm39) critical splice acceptor site probably null
R9280:Pla2g6 UTSW 15 79,197,314 (GRCm39) missense probably benign 0.09
R9471:Pla2g6 UTSW 15 79,202,039 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACACTTGGTGTGAAGCCACC -3'
(R):5'- CTGGTCAGCCATTCTTACAATC -3'

Sequencing Primer
(F):5'- TTGGTGTGAAGCCACCACATAAC -3'
(R):5'- GTCAGCCATTCTTACAATCTCCAGAG -3'
Posted On 2018-04-27